ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.7074G>A (p.Ala2358=)

gnomAD frequency: 0.00404  dbSNP: rs146381488
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078892 SCV000337096 benign not specified 2016-05-06 criteria provided, single submitter clinical testing
Invitae RCV000559683 SCV000650395 benign Epidermolysis bullosa simplex 5B, with muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex 5C, with pyloric atresia; Autosomal recessive limb-girdle muscular dystrophy type 2Q; Epidermolysis bullosa simplex with nail dystrophy 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000078892 SCV000730045 benign not specified 2017-03-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CeGaT Center for Human Genetics Tuebingen RCV001200490 SCV001371464 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing PLEC: BP4, BP7, BS2
Athena Diagnostics Inc RCV000078892 SCV001475382 benign not specified 2020-08-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003915054 SCV004731603 benign PLEC-related condition 2019-07-30 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001200490 SCV001741731 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001200490 SCV001972356 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001200490 SCV002036677 likely benign not provided no assertion criteria provided clinical testing

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